U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Agammaglobulinemia 3, autosomal recessive(AGM3)

MedGen UID:
462101
•Concept ID:
C3150751
•
Disease or Syndrome
Synonyms: AGAMMAGLOBULINEMIA 3; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT; AGM3
 
Gene (location): CD79A (19q13.2)
 
Monarch Initiative: MONDO:0013288
OMIM®: 613501

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. [from MONDO]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Diarrhea
MedGen UID:
8360
•Concept ID:
C0011991
•
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
See: Feature record | Search on this feature
Recurrent bronchitis
MedGen UID:
148159
•Concept ID:
C0741796
•
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
See: Feature record | Search on this feature
Recurrent lower respiratory tract infections
MedGen UID:
756211
•Concept ID:
C3163798
•
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
See: Feature record | Search on this feature
Agammaglobulinemia
MedGen UID:
168
•Concept ID:
C0001768
•
Disease or Syndrome
A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.
See: Feature record | Search on this feature
Recurrent otitis media
MedGen UID:
155436
•Concept ID:
C0747085
•
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
See: Feature record | Search on this feature
Neutropenia
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
An abnormally low number of neutrophils in the peripheral blood.
See: Feature record | Search on this feature
Recurrent bacterial infections
MedGen UID:
334943
•Concept ID:
C1844383
•
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
See: Feature record | Search on this feature
Abnormal T cell morphology
MedGen UID:
343416
•Concept ID:
C1855752
•
Finding
An abnormality of T cells.
See: Feature record | Search on this feature
Absent circulating B cells
MedGen UID:
868166
•Concept ID:
C4022558
•
Finding
Complete lack of mature B cells, that is, of B cells that have left the bone marrow.
See: Feature record | Search on this feature
Absent isohemagglutinin level
MedGen UID:
1691361
•Concept ID:
C5139456
•
Finding
Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N
J Inherit Metab Dis 2014 May;37(3):461-73. Epub 2013 Dec 5 doi: 10.1007/s10545-013-9664-5. PMID: 24305960

Recent clinical studies

Etiology

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Khoshnevisan R, Hassanzadeh S, Klein C, Rohlfs M, Grimbacher B, Molavi N, Zamanifar A, Khoshnevisan A, Jafari M, Bagherpour B, Behnam M, Najafi S, Sherkat R
Immunogenetics 2024 Jun;76(3):189-202. Epub 2024 Apr 29 doi: 10.1007/s00251-024-01342-y. PMID: 38683392
Brain Abscess in a Patient with Osteopetrosis: A Rare Complication.
İşeri Nepesov M, Kıral E, Bozan G, Kılıç Ö, Çarman KB, Yarar C, Şaylısoy S, Dinleyici EÇ
J Clin Res Pediatr Endocrinol 2021 Aug 23;13(3):358-361. Epub 2020 Aug 25 doi: 10.4274/jcrpe.galenos.2020.2020.0039. PMID: 32840095Free PMC Article
A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis.
Banday AZ, Jindal AK, Kaur A, Kumar Y, Nameirakpam J, Patra PK, Rawat A
Immunobiology 2020 May;225(3):151912. Epub 2020 Feb 10 doi: 10.1016/j.imbio.2020.151912. PMID: 32061411
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD
Blood 2005 Mar 1;105(5):1881-90. Epub 2004 Sep 9 doi: 10.1182/blood-2003-12-4420. PMID: 15358621
Early defects in B cell development.
Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

Diagnosis

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Khoshnevisan R, Hassanzadeh S, Klein C, Rohlfs M, Grimbacher B, Molavi N, Zamanifar A, Khoshnevisan A, Jafari M, Bagherpour B, Behnam M, Najafi S, Sherkat R
Immunogenetics 2024 Jun;76(3):189-202. Epub 2024 Apr 29 doi: 10.1007/s00251-024-01342-y. PMID: 38683392
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.
Geraldo AF, Caorsi R, Tortora D, Gandolfo C, Ammendola R, Alessio M, Conti G, Insalaco A, Pastore S, Martino S, Ceccherini I, Signa S, Gattorno M, Rossi A, Severino M
AJNR Am J Neuroradiol 2021 May;42(5):975-979. Epub 2021 Feb 25 doi: 10.3174/ajnr.A7019. PMID: 33632736Free PMC Article
Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.
Kiaee F, Zaki-Dizaji M, Hafezi N, Almasi-Hashiani A, Hamedifar H, Sabzevari A, Shirkani A, Zian Z, Jadidi-Niaragh F, Aghamahdi F, Goudarzvand M, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Endocr Metab Immune Disord Drug Targets 2021;21(4):664-672. doi: 10.2174/1871530320666200613204426. PMID: 32533820
Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.
Tang P, Upton JEM, Barton-Forbes MA, Salvadori MI, Clynick MP, Price AK, Goobie SL
J Clin Immunol 2018 Jan;38(1):88-95. Epub 2017 Nov 25 doi: 10.1007/s10875-017-0462-y. PMID: 29178053
Early defects in B cell development.
Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

Therapy

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.
Drago E, Garbarino F, Signa S, Grossi A, Schena F, Penco F, Santori E, Candotti F, Boztug K, Volpi S, Gattorno M, Caorsi R
Front Immunol 2022;13:937108. Epub 2022 Sep 9 doi: 10.3389/fimmu.2022.937108. PMID: 36159847Free PMC Article
Brain Abscess in a Patient with Osteopetrosis: A Rare Complication.
İşeri Nepesov M, Kıral E, Bozan G, Kılıç Ö, Çarman KB, Yarar C, Şaylısoy S, Dinleyici EÇ
J Clin Res Pediatr Endocrinol 2021 Aug 23;13(3):358-361. Epub 2020 Aug 25 doi: 10.4274/jcrpe.galenos.2020.2020.0039. PMID: 32840095Free PMC Article
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A
Blood 2016 Jul 7;128(1):45-54. Epub 2016 Apr 29 doi: 10.1182/blood-2016-01-688226. PMID: 27129325Free PMC Article
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N
J Inherit Metab Dis 2014 May;37(3):461-73. Epub 2013 Dec 5 doi: 10.1007/s10545-013-9664-5. PMID: 24305960
Females with a disorder phenotypically identical to X-linked agammaglobulinemia.
Conley ME, Sweinberg SK
J Clin Immunol 1992 Mar;12(2):139-43. doi: 10.1007/BF00918144. PMID: 1560108

Prognosis

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.
Castro ACE, Maia R, Batalha S, Freixo JP, Martins C, Neves C, Cordeiro AI, Neves JF
Front Immunol 2022;13:869728. Epub 2022 May 3 doi: 10.3389/fimmu.2022.869728. PMID: 35592332Free PMC Article
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
Fischer-Zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-Woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U
J Hum Genet 2019 Jul;64(7):609-616. Epub 2019 Apr 24 doi: 10.1038/s10038-019-0602-8. PMID: 31015584
Clinical and Immunological Characterization of ICF Syndrome in Japan.
Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, Kanegane H, Nonoyama S
J Clin Immunol 2018 Nov;38(8):927-937. Epub 2018 Oct 23 doi: 10.1007/s10875-018-0559-y. PMID: 30353301
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A
Blood 2016 Jul 7;128(1):45-54. Epub 2016 Apr 29 doi: 10.1182/blood-2016-01-688226. PMID: 27129325Free PMC Article
Early defects in B cell development.
Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

Clinical prediction guides

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.
Carmona-Rivera C, Khaznadar SS, Shwin KW, Irizarry-Caro JA, O'Neil LJ, Liu Y, Jacobson KA, Ombrello AK, Stone DL, Tsai WL, Kastner DL, Aksentijevich I, Kaplan MJ, Grayson PC
Blood 2019 Jul 25;134(4):395-406. Epub 2019 Apr 23 doi: 10.1182/blood.2018892752. PMID: 31015188Free PMC Article
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ
J Clin Immunol 2018 May;38(4):484-493. Epub 2018 May 9 doi: 10.1007/s10875-018-0496-9. PMID: 29744787
Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency.
Minegishi Y, Karasuyama H
Int Immunol 2009 Feb;21(2):105-12. Epub 2008 Dec 15 doi: 10.1093/intimm/dxn134. PMID: 19088064

Recent systematic reviews

Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.
Kiaee F, Zaki-Dizaji M, Hafezi N, Almasi-Hashiani A, Hamedifar H, Sabzevari A, Shirkani A, Zian Z, Jadidi-Niaragh F, Aghamahdi F, Goudarzvand M, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Endocr Metab Immune Disord Drug Targets 2021;21(4):664-672. doi: 10.2174/1871530320666200613204426. PMID: 32533820

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...